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Details of Gene

Item Details
Gene/Locus name

CACNA1F (also called Cav1.4,JM8,JMC8,CSNBX2,CORDX3,CSNB2A,OA2)

Long Name

calcium voltage-gated channel subunit alpha1 F (OMIM 300110)

Associated Disorders

OMIM 300476 : Cone-rod dystrophy, X-linked, 3
OMIM 300600 : Aland Island eye disease
OMIM 300071 : Night blindness, congenital stationary (incomplete), 2A, X-linked

Interpretation / Comment

Laboratory methods do not necessarily identify all of the clinically significant variants in a gene. The failure to identify a variant does not necessarily mean that the gene is normal. Variants in a gene may cause more than one disease, and the identification of a clinically significant variant does not necessarily indicate the specific disease that the patient or relatives may be at risk of developing. Conversely, the disease/s associated with a gene might also be caused by mutations in other genes, and the failure to identify a clinically significant variant in one gene does not necessarily alter the clinical diagnosis or risk for relatives.

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